Camurati-Engelmann disease with bilateral proptosis and optic neuropathy: a case report and literature review

Camurati-Engelmann disease (CED) is a rare autosomal dominant skeletal disorder caused by mutations in the TGFB1 gene and is characterized by progressive diaphyseal widening and cortical thickening of long bones. A 29-year-old woman presented with bilateral proptosis, hypothyroidism and a 15-year history of hearing loss and limb pain. Superior visual field defects were detected on automated perimetry. Orbital computed tomography demonstrated orbital apex crowding and narrowing of the optic canals caused by skull hyperostosis, raising concern for compressive optic neuropathy. Imaging revealed systemic skeletal abnormalities, including macrocephaly, mandibular overgrowth, and cortical thickening of multiple bones. Genetic testing confirmed a pathogenic TGFB1 mutation, establishing the diagnosis of CED. Treatment with zoledronic acid, methotrexate, and hormone replacement therapy improved bone metabolism and relieved bone pain at the six-month follow-up. At one-year follow-up, optical coherence tomography showed reduced peripapillary retinal nerve fiber layer thickness (mean 66 μm in both eyes), accompanied by mild progression of visual field defects. Orbital apex decompression with possible optic canal decompression was considered if visual function declined further. This case highlights the potential for orbital involvement and compressive optic neuropathy in CED and underscores the importance of multidisciplinary management and regular ophthalmologic monitoring.